Molecular modeling of the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase and predictions of structural effects of mutations associated with HIBM and sialuria [PDF]
Glycobiology, 2009 The bifunctional enzyme UDP-GlcNAc 2-epimerase/ ManNAc kinase (GNE/MNK), encoded by the GNE gene, catalyzes the first two committed, rate-limiting steps in the biosynthesis of N-acetylneuraminic acid (sialic acid). GNE/MNK is feedback inhibited by binding of the downstream product, CMP-sialic acid in its allosteric site. GNE mutations can result in two
Natalya Kurochkina +2 more
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A novel autosomal dominant inclusion body myopathy linked to 7q22.1-31.1. [PDF]
PLoS ONE, 2012 We describe a novel autosomal dominant hereditary inclusion body myopathy (HIBM) that clinically mimics limb girdle muscular dystrophy in a Chinese family. We performed a detailed clinical assessment of 36 individuals spanning four generations.
Yan Lu +9 more
doaj +5 more sources
Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model [PDF]
Nature Medicine, 2009 Distal myopathy with rimmed vacuoles (DMRV)-hereditary inclusion body myopathy (hIBM) is an adult-onset, moderately progressive autosomal recessive myopathy; eventually, affected individuals become wheelchair bound1. It is characterized clinically by skeletal muscle atrophy and weakness, and pathologically by rimmed vacuoles, which are actually ...
May Christine V. Malicdan +4 more
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Annals of Indian Academy of Neurology, 2016 Background: Hereditary inclusion body myopathy (HIBM) continues to be underrecognized clinically despite a characteristic topography of weakness with total sparing of quadriceps muscles and patient being wheelchair bound. We report seven patients of HIBM
Biplab Das +8 more
doaj +2 more sources
794. Background Strain and Natural Selection Improves Survival of HIBM Mouse Model [PDF]
Molecular Therapy, 2010 openalex +2 more sources
774. Serum Neural Cell Adhesion Molecule (NCAM) Is Hyposialylated in Hereditary Inclusion Body Myopathy (HIBM) [PDF]
Molecular Therapy, 2011 openalex +2 more sources
586. A Single Patient, Multiple Intravenous (IV) Infusion, Clinical Trial of GNE-Lipoplex for Therapy of Hereditary Inclusion Body Myopathy (HIBM) [PDF]
Molecular Therapy, 2010 openalex +2 more sources
Characterization of Cellular Heterogeneity and an Immune Subpopulation of Human Megakaryocytes. [PDF]
Adv Sci (Weinh), 2021 By performing single‐cell transcriptomic analysis of human megakaryocytes from native bone marrow, the megakaryocyte heterogeneity is revealed, an immune subpopulation marked by CD148 and CD48 is discovered, and the potential function of immune megakaryocytes as immune‐surveillance cells is elucidated.
Liu C +17 more
europepmc +2 more sources
578. Manufacturing and Stability Testing of a GNE-Lipoplex for a Clinical Trial for the Treatment of Hereditary Inclusion Body Myopathy Type (HIBM) [PDF]
Molecular Therapy, 2010 openalex +2 more sources
Developments in Nanopatterning of Graphene; Toward Direct Writing. [PDF]
Adv MaterOverview of principal direct‐write graphene patterning methodologies including focused electron beam induced deposition (FEBID), laser induced graphitisation (LIG), focused ion beam (FIB), scanning tunneling microscopy (STM) and atomic force microscopy (AFM) Abstract Graphene, with its exceptional electronic, mechanical, and thermal properties, remains
Abrahamczyk S +4 more
europepmc +2 more sources